Hermansky-Pudlak syndrome

Common Name(s)

Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Some individuals have colitis, kidney failure, and pulmonary fibrosis. Symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. This condition is inherited in an autosomal recessive fashion.

There are eight different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms of all the types. Little is known about the signs, symptoms, and severity of types 7 and 8.

To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities
To enable people affected by bleeding disorders to better understand and manage their condition or situation.
To enable people affected by bleeding disorders to participate in decision making and service delivery.
To influence policy and improve services to people with bleeding disorders.

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Advocacy and Support Organizations

Condition Specific Organizations

Following organizations serve the condition "Hermansky-Pudlak syndrome" for support, advocacy or research.

To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities
To enable people affected by bleeding disorders to better understand and manage their condition or situation.
To enable people affected by bleeding disorders to participate in decision making and service delivery.
To influence policy and improve services to people with bleeding disorders.

General Support Organizations

Recommended Apps

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Finding the right clinical trial for Hermansky-Pudlak syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hermansky-Pudlak syndrome" returned 94 free, full-text research articles on human participants.
First 3 results:

We herein report a case of Hermansky-Pudlak syndrome (HPS) with nonspecific interstitial pneumonia (NSIP). A 58-year-old Japanese woman presented with oculocutaneous albinism and dyspnea on exertion. A high resolution computed tomography scan showed areas of reticular and ground glass ...

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hermansky-Pudlak syndrome" returned 2 free, full-text review articles on human participants.
First 3 results:

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which influencing the prognosis is pulmonary fibrosis. In the present report, we describe an autopsy case of a Japanese woman with HPS. The patient was diagnosed at 50 years of age based on ...

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Hermansky-Pudlak syndrome" (open studies are recruiting volunteers) and 7 "Hermansky-Pudlak syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Hermansky-Pudlak syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.